Neuromyelitis Optica Spectrum Disorders and Autoimmune Manifestations

Neuromyelitis optica spectrum disorders (NMOSD) are rare, relapsing inflammatory diseases of the central nervous system, predominantly affecting the optic nerves and spinal cord. Central to their pathogenesis is the production of autoantibodies against aquaporin-4 (AQP4-Ab), a water-channel protein on astrocytes, which triggers complement-mediated cytotoxicity and secondary demyelination. A subset of patients harbour antibodies against myelin oligodendrocyte glycoprotein (MOG-Ab), defining a distinct but overlapping syndrome. Genetic predisposition, aberrant T-helper 17 responses and dysregulated cytokine networks contribute to blood–brain barrier disruption and immune infiltration. NMOSD often coexists with systemic autoimmune conditions such as systemic lupus erythematosus, Sjögren’s syndrome or thyroid disease, complicating disease course and requiring integrated immunomodulatory strategies. Early recognition and tailored immunotherapy have transformed prognosis, emphasising the importance of biomarkers in predicting relapse and outcomes.

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Neuromyelitis Optica Spectrum Disorders and Autoimmune Manifestations publication trend

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Technical terms

Aquaporin-4 autoantibody (AQP4-Ab): An immunoglobulin targeting the water-channel protein AQP4 on astrocytes, central to NMOSD pathogenesis.

Myelin oligodendrocyte glycoprotein antibody (MOG-Ab): An autoantibody directed against a surface protein on oligodendrocytes, defining a related demyelinating syndrome distinct from AQP4-mediated disease.

Complement-mediated cytotoxicity: A cascade of serum proteins activated by antibody binding that leads to cell lysis and tissue damage in the CNS.

Expanded Disability Status Scale (EDSS): A quantitative measure of neurological impairment and disability progression used in demyelinating disorders.

References

1. The relationship between neuromyelitis optica spectrum disorder and autoimmune diseases. Frontiers in Immunology (2024).
2. Molecular Pathogenesis of Neuromyelitis Optica. International Journal of Molecular Sciences (2012).
3. The causal relationship between neuromyelitis optica spectrum disorder and other autoimmune diseases. Frontiers in Immunology (2022).
4. Neuromyelitis optica spectrum disorders with and without connective tissue disorders. BMC Neurology (2018).
5. Analysis of Predictive Risk Factors in Aquaporin-4-IgG Positive Highly Active Neuromyelitis Optica Spectrum Disorders. Frontiers in Neurology (2021).